Coping with an Orphan Disorder

Aside from the lack of available medication and treatment in the market, rare diseases or orphan disorders are often neglected by the medical and healthcare community who pay more attention to other more common illnesses. There’s hardly any available health support and health delivery system established in the country. H&L’s former senior editor Espie Angelica A. de Leon shares the story of Dickoy Magdaraog who’s suffering from Pompe disease. Despite his disabling disorder, Dickoy lives a meaningful and productive life

Juan Benedicto “Dickoy” Magdaraog is a regular guy.

Equipped with a degree in Industrial Design from De La Salle – College of St. Benilde, he is a work-from-home urbanite who sells gadgets on the side and invests in the stock market. On his free time, he goes around Greenhills, watches movies, and drinks with friends.

He’s got Twitter, Instagram, and Facebook (FB) accounts. He does online banking, shops and meets people online. And, he likes burgers, pizza, and ramen. Not to mention that he does have a girlfriend, and a great sense of humor.

“The only thing he can move on his own is his wrist,” shares mom Cynthia, president of the Philippine Society for Orphan Disorders.

In the Philippines, rare diseases affect one in 20,000 individuals. Most cases are due to inborn errors of metabolism where there is lack of a specific enzyme in the body. There are only a few specialists who can immediately suspect or diagnose this condition correctly.

According to Cynthia, there is a lack of available medication and treatment in the market and help from society at large. Rare diseases are often neglected by doctors who pay more attention to other more common illnesses. In which case, there is hardly any available health support and health delivery system established in the country. For these reasons, rare diseases are also called orphan disorders.

Her son, now 37 years old, has two or three caregivers who feed him and accompany him wherever he goes. He is also totally dependent on his ventilator. Since Pompe disease affects the muscles, the heart and lungs weaken eventually, and without early treatment, this may lead to cardiac arrest or pulmonary complications.

Truly, Dickoy is more than the regular guy. He’s actually a rare breed. His resilience and resolve to be useful and productive is what makes him a rarity among victims of rare diseases and other debilitating conditions.

“I have Pompe disease but it does not define me,” he declares firmly during a roundtable discussion of rare diseases organized by the Department of Science and Technology’s National Academy of Science and Technology (DOST-NAST) in October 2014. “It’s part of me but it’s not who I am. Who I am is so much more.”

Dickoy with his mom, Cynthia, president of the Philippine Society for Orphan Disorders

Dickoy’s story

Born in November 1977, Dickoy was a normal boy growing up – running, jumping, swimming, and playing patintero with other kids. He loved cars and had crushes.

Then he reached the age of 10. His parents noticed he was having difficulty climbing the stairs, running and keeping up with the other kids. His hips would also waddle whenever he walked, causing other children to call him “bakla (gay)” and “lampa (clumsy).”

By the time he was in high school, he could not pull out the heavy books. Upon advice, the Magdaraogs transferred their son to another school since Ateneo was not built or equipped for handicapped students.

At his new school, classmates would piggyback him through the stairs of their four-storey school building. One of them was his best friend, Dino with whom he has kept in touch. Aside from carrying him on his back, Dino would also walk slowly with him in school.

At home, Dickoy was also ably supported by his family including brother Stevie who is four years younger. There was a time when they shared a room and Stevie would wake up early in the morning to turn his brother on his side or carry him to the bathroom.

“We let him be. We let him adjust to his disorder and we treated him as if there was nothing wrong with him,” relates Cynthia.

One of the doctors said he would not live past the age of 30. While the family acknowledged the possibility of their eldest being snatched from life at an early age, their hopes were kept alive by another doctor in the United States.

“Who knows, science and technology might catch up. Let’s keep him well and healthy,” the doctor advised the couple.

Dickoy finally discovered what afflicted him when this doctor told his family he was suffering from Pompe disease. By this time, he was already 16 years old. By the age of 17, he was on a wheelchair.

In December 2005, at age 27, he was given his first enzyme replacement therapy. In previous years, clinical trials for the treatment were still being held. By this time however, human trials were already being conducted. Dickoy learned about these trials and applied for a slot among the participants. His application was approved.

Best Christmas

“That was the best Christmas we ever had,” recalls Cynthia. “For us, it was a scientific miracle and a scientific blessing.”

Previously, Dickoy was so thin and thinking that he had muscular dystrophy, the doctors were making him eat and do things that were otherwise not acceptable for Pompe disease.

“We were giving him sugar, thinking that it would boost his energy. It turned out his body could not process sugar. Then he was given exercises in the physical therapy clinic. The exercises turned out to be only wasting his muscles. So when we went to the US, the nutritionist gave him a different diet – high fat, high protein, low carbohydrate, and he had to take ¼ cup of peanut butter every meal,” shares Cynthia.

Thus, the progression of his disease was halted. He has not weakened ever since.

At present, Dickoy continues to go to the doctor for his IV infusions once every two weeks.

“Of course it’s never going to be a miracle drug that’s going to make me walk all of a sudden. It’s keeping me alive and hopefully as science and technology progresses, there would be better treatments, better options,” he says.

Tapping modern technology

For the meantime, he makes productive use of his time by working online. Taking advantage of modern technology, he taught himself web design and started designing websites on a freelance basis. Now, he works for a BPO for a US-based firm. He maintains two scholarship sites for the firm, and does front-end coding for them and other support work like troubleshooting and updating.

“I’m very grateful for this industry, the outsourcing industry,” he states. “And the Internet is a great invention.”

He saves money for the things he needs to buy, such as his motorized wheelchair and his van which is equipped with a lift.

Dickoy reveals how some people have wondered how come he’s not angry or depressed. He tells them he just takes it one day at a time. “If it’s a bad day, the consolation is that I get to sleep and tomorrow I start all over. Be thankful for the things that are there, like I have a good family. I’ve never experienced being hungry in my life. I never experienced sleeping in the streets, not having clothes. Some people don’t have a place to stay. So why will I complain?” he elaborates.

“He always believes that success is not how much money you have or the prestige that you earn. It’s how you handle the barriers and become productive,” Cynthia adds. “He was also blessed that the Lord balances it off. Because physically, it is so hard to have friends. But he has a lot of friends because of the Internet – even people from other parts of the world.”

Among this wide circle of friends are other Pompe disease patients in the Philippines and abroad, specifically his co-members at the US-based International Pompe Association. They get in touch with one another via the organization’s FB page.

In fact, Dickoy logs on to FB every day, “not because I want to waste my time.” For him, FB is a valuable tool which provides him with a channel to get ideas, meet people and just know what’s going on in the world. He forgets about his disability while he is working or interacting with friends on the Internet, he says.

It is also through the Internet – social media in particular – that Dickoy shares his experiences to others to fulfill his advocacy for rare disease patients like him. At the same times, he gives talks during public fora on health such as round table discussions organized by DOST-NAST.

“If it’s a bad day, the consolation is that I get to sleep and tomorrow I start all over. Be thankful for the things that are there, like I have a good family. I’ve never experienced being hungry in my life. I never experienced sleeping in the streets, not having clothes. Some people don’t have a place to stay. So why will I complain”

In fact, he promotes technology as a whole, as a way to lead a productive life. “The best way to promote it is to share my life and get them to see that, ‘Look I’m a person with disability and I can’t merely move my hand, yet I’m productive because of technology, computers, Internet and I can do most of the stuff that I need to do like I communicate online through smartphones, I get to chat and meet several people,’” he explains.

He may have accepted his situation but his hopes have not been dashed. “Hopefully, as the Philippines strengthens its science and technology sector, we hope we’ll be able to develop a treatment or a cure not just for people with rare diseases, but diseases in general,” he says, beaming with optimism.